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71.
Elisabeth Steichen-Gersdorf Holly H. Gallion Deborah Ford Catherine Girodet Douglas F. Easton Richard A. DiCioccio Gareth Evans Margaret A. Ponder Carole Pye Sylvie Mazoyer Tetsuro Noguchi Fabienne Karengueven Hagay Sobol A. Hardouin Yves-Jean Bignon M. Steven Piver Simon A. Smith Bruce A. J. Ponder 《American journal of human genetics》1994,55(5):870-875
In a study of nine families with “site-specific” ovarian cancer (criterion: three or more cases of epithelial ovarian cancer and no cases of breast cancer diagnosed at age <50 years) we have obtained evidence of linkage to the breast-ovarian cancer susceptibility gene, BRCA1 on 17q12-21. If the risk of cancer in these families is assumed to be restricted to the ovary, the best estimate of the proportion of families linked to BRCA1 is .78 (95% confidence interval .32–1.0). If predisposition to both breast and ovarian cancer is assumed, the proportion linked is 1.0 (95% confidence interval .46–1.0). The linkage of familial site-specific ovarian cancer to BRCA1 indicates the possibility of predictive testing in such families; however, this is only appropriate in families where the evidence for linkage to BRCA1 is conclusive. 相似文献
72.
Anne‐Laure Valton Vahideh Hassan‐Zadeh Ingrid Lema Nicole Boggetto Patrizia Alberti Carole Saintomé Jean‐François Riou Marie‐Noëlle Prioleau 《The EMBO journal》2014,33(7):732-746
DNA replication ensures the accurate duplication of the genome at each cell cycle. It begins at specific sites called replication origins. Genome‐wide studies in vertebrates have recently identified a consensus G‐rich motif potentially able to form G‐quadruplexes (G4) in most replication origins. However, there is no experimental evidence to demonstrate that G4 are actually required for replication initiation. We show here, with two model origins, that G4 motifs are required for replication initiation. Two G4 motifs cooperate in one of our model origins. The other contains only one critical G4, and its orientation determines the precise position of the replication start site. Point mutations affecting the stability of this G4 in vitro also impair origin function. Finally, this G4 is not sufficient for origin activity and must cooperate with a 200‐bp cis‐regulatory element. In conclusion, our study strongly supports the predicted essential role of G4 in replication initiation. 相似文献
73.
Vincent Rouger Guillaume Bordet Carole Couillault Serge Monneret Sébastien Mailfert Jonathan?J. Ewbank Nathalie Pujol Didier Marguet 《Biophysical journal》2014,106(10):2096-2104
To investigate the early stages of cell-cell interactions occurring between living biological samples, imaging methods with appropriate spatiotemporal resolution are required. Among the techniques currently available, those based on optical trapping are promising. Methods to image trapped objects, however, in general suffer from a lack of three-dimensional resolution, due to technical constraints. Here, we have developed an original setup comprising two independent modules: holographic optical tweezers, which offer a versatile and precise way to move multiple objects simultaneously but independently, and a confocal microscope that provides fast three-dimensional image acquisition. The optical decoupling of these two modules through the same objective gives users the possibility to easily investigate very early steps in biological interactions. We illustrate the potential of this setup with an analysis of infection by the fungus Drechmeria coniospora of different developmental stages of Caenorhabditis elegans. This has allowed us to identify specific areas on the nematode’s surface where fungal spores adhere preferentially. We also quantified this adhesion process for different mutant nematode strains, and thereby derive insights into the host factors that mediate fungal spore adhesion. 相似文献
74.
Janis E. Lochner Geoffrey V. F. Seaman Philip Blume Arthur Malley 《Cell biochemistry and biophysics》1982,4(1):15-24
Concanavalin A, at extremely low concentrations, will produce significant increases in the electrophoretic mobility of murine
splenic T lymphocytes. It has been established that the alteration in cellular surface charge is mediated by a factor produced
by those lymphocytes that have reacted directly with con A. We originally conjectured that the mobility change might be the
consequence of an alteration in the distribution of the charged moieties of membrane glycoproteins. The results of experiments
conducted at low temperature raise some questions about this mechanism. Further experiments have been performed to establish
the nature of the physicochemical alterations in the peripheral zone of the factor-stimulated lymphocytes that are manifest
as changes in cellular surface charge. The results of these studies indicate that, subsequent to the interaction of T lymphocytes
with con A, there is a reduction in the number of positively charged amino groups effective at the electrophoretic surface
of the cells. 相似文献
75.
Stéphanie Rollero Audrey Bloem Anne Ortiz-Julien Florian F. Bauer Carole Camarasa Benoit Divol 《Environmental microbiology》2019,21(11):4076-4091
In grape must, nitrogen is available as a complex mixture of various compounds (ammonium and amino acids). Wine yeasts assimilate these multiple sources in order to suitably fulfil their anabolic requirements during alcoholic fermentation. Nevertheless, the order of uptake and the intracellular fate of these sources are likely to differ between strains and species. Using a two-pronged strategy of isotopic filiation and RNA sequencing, the metabolic network of nitrogen utilization and its regulation in Kluyveromyces marxianus were described, in comparison with those of Saccharomyces cerevisiae. The data highlighted differences in the assimilation of ammonium and arginine between the two species. The data also revealed that the metabolic fate of certain nitrogen sources differed, thereby resulting in the production of various amounts of key wine aroma compounds. These observations were corroborated by the gene expression analysis. 相似文献
76.
Charles Rocabert Guillaume Beslon Carole Knibbe Samuel Bernard 《Evolution; international journal of organic evolution》2020,74(10):2221-2237
Experimental studies demonstrate the existence of phenotypic diversity despite constant genotype and environment. Theoretical models based on a single phenotypic character predict that during an adaptation event, phenotypic noise should be positively selected far from the fitness optimum because it increases the fitness of the genotype, and then be selected against when the population reaches the optimum. It is suggested that because of this fitness gain, phenotypic noise should promote adaptive evolution. However, it is unclear how the selective advantage of phenotypic noise is linked to the rate of evolution, and whether any advantage would hold for more realistic, multidimensional phenotypes. Indeed, complex organisms suffer a cost of complexity, where beneficial mutations become rarer as the number of phenotypic characters increases. Using a quantitative genetics approach, we first show that for a one-dimensional phenotype, phenotypic noise promotes adaptive evolution on plateaus of positive fitness, independently from the direct selective advantage on fitness. Second, we show that for multidimensional phenotypes, phenotypic noise evolves to a low-dimensional configuration, with elevated noise in the direction of the fitness optimum. Such a dimensionality reduction of the phenotypic noise promotes adaptive evolution and numerical simulations show that it reduces the cost of complexity. 相似文献
77.
Vascular leak syndrome (VLS) is a common and often fatal sequela of multiple bone traumas, and of infectious, toxic, and allergic insults in human patients. Although an animal model for VLS has not been fully established, rats have shown sensitivity to the syndrome that approximates that of the human population. We describe cases of VLS in three-month-old adult and one-month-old Sprague-Dawley rats in an osteogenesis study aimed at optimizing correction of bone hypoplasias and other craniofacial deformities in children, using a mandibular distraction device. In the study reported here, VLS was diagnosed in 40% of the rats that were necropsied after dying or being euthanized early, subsequent to mandibular osteotomy, a procedure that involves minimal bone trauma. The gross and histologic findings, as well as the clinical course of VLS in the rats of the osteogenesis study, were similar to those of documented human cases. Hence, the rat may be a useful animal model to h elp characterize the physiologic and molecular events that accompany this syndrome. 相似文献
78.
Jingtao Huang Ian M Colrain Howard B Panitch Ignacio E Tapia Michael S Schwartz John Samuel Michelle Pepe Preetam Bandla Ruth Bradford Yael P Mosse John M Maris Carole L Marcus 《Journal of applied physiology》2008,105(1):44-53
The early literature suggests that hypoventilation in infants with congenital central hypoventilation syndrome (CHS) is less severe during rapid eye movement (REM) than during non-REM (NREM) sleep. However, this supposition has not been rigorously tested, and subjects older than infancy have not been studied. Given the differences in anatomy, physiology, and REM sleep distribution between infants and older children, and the reduced number of limb movements during REM sleep, we hypothesized that older subjects with CHS would have more severe hypoventilation during REM than NREM sleep. Nine subjects with CHS, aged (mean +/- SD) 13 +/- 7 yr, were studied. Spontaneous ventilation was evaluated by briefly disconnecting the ventilator under controlled circumstances. Arousal was common, occurring in 46% of REM vs. 38% of NREM trials [not significant (NS)]. Central apnea occurred during 31% of REM and 54% of NREM trials (NS). Although minute ventilation declined precipitously during both REM and NREM trials, hypoventilation was less severe during REM (drop in minute ventilation of 65 +/- 23%) than NREM (drop of 87 +/- 16%, P = 0.036). Despite large changes in gas exchange during trials, there was no significant change in heart rate during either REM or NREM sleep. We conclude that older patients with CHS frequently have arousal and central apnea, in addition to hypoventilation, when breathing spontaneously during sleep. The hypoventilation in CHS is more severe during NREM than REM sleep. We speculate that this may be due to increased excitatory inputs to the respiratory system during REM sleep. 相似文献
79.
80.
Annie Rochette Nicol Korner-Bitensky Duane Bishop Robert Teasell Carole White Gina Bravo Robert Côté Jean Lachaine Teri Green Louise-Hélène Lebrun Sylvain Lanthier Moira Kapral Sharon Wood-Dauphinee 《BMC neurology》2010,10(1):1-10